Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03346:Pcdhb18'

417447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

PcdhbR, Pcdhb9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL03346

Quality Score

Status

Chromosome

Chromosomal Location

37489465-37494505 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to A at 37489621 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000052113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]

Predicted Effect

probably benign
Transcript: ENSMUST00000053856

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	31	112	5.8e-35	PFAM
CA	155	240	2.42e-18	SMART
CA	264	345	8.03e-24	SMART
CA	368	449	5.81e-21	SMART
CA	473	559	8.15e-25	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	770	1.8e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000055949
AA Change: M1I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: M1I

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Cadherin_2	30	112	3.1e-34	PFAM
CA	155	240	7.97e-19	SMART
CA	264	345	6.27e-26	SMART
CA	368	449	2.63e-19	SMART
CA	473	559	7.09e-25	SMART
CA	589	670	2.87e-11	SMART
Pfam:Cadherin_C_2	687	771	7.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	C	T	16: 29,314,604	V410M	probably benign	Het
Cdkn2aip	G	T	8: 47,713,618	D51E	probably benign	Het
Chd6	A	G	2: 160,960,362	V2184A	probably benign	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cldn23	G	A	8: 35,825,440		probably benign	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Cog5	A	T	12: 31,894,038	I641F	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Creg2	T	G	1: 39,650,747	D65A	probably damaging	Het
Dennd4a	A	G	9: 64,888,526	R711G	possibly damaging	Het
Efr3b	A	G	12: 3,984,648	V58A	probably damaging	Het
Fbxo3	A	G	2: 104,050,294	T250A	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Gabrg1	A	T	5: 70,778,131	Y227N	possibly damaging	Het
Gins3	A	G	8: 95,643,275	I197V	probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Gm8909	C	A	17: 36,168,109	D83Y	probably damaging	Het
Gna15	T	C	10: 81,503,045	Y320C	probably damaging	Het
Hibch	G	A	1: 52,920,380		probably benign	Het
Kif5b	G	A	18: 6,222,767	R355W	probably damaging	Het
Klf1	T	C	8: 84,902,932	S129P	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Nat8f5	A	G	6: 85,817,658	S107P	probably damaging	Het
Olfr331	A	G	11: 58,501,755	L267P	possibly damaging	Het
Olfr938	C	A	9: 39,077,961	Q261H	probably benign	Het
Olfr938	T	A	9: 39,077,962	Q261L	probably damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Polr2g	T	C	19: 8,798,305	H14R	probably damaging	Het
Rp1l1	A	G	14: 64,029,440	D825G	probably benign	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Slc25a54	T	C	3: 109,085,730		probably benign	Het
Smad9	C	A	3: 54,789,215	Q234K	probably benign	Het
Tie1	T	C	4: 118,472,828	Y1066C	probably damaging	Het
Traf1	T	C	2: 34,948,472	E118G	probably benign	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Uaca	C	A	9: 60,854,318	T204K	probably damaging	Het
Utrn	A	T	10: 12,525,352	Y154N	probably benign	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Vmn2r50	T	C	7: 10,046,002	D500G	probably damaging	Het
Vmn2r59	T	A	7: 42,043,829	H449L	probably benign	Het

Other mutations in Pcdhb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Pcdhb18	APN	18	37491931	missense	probably benign	0.35
IGL02651:Pcdhb18	APN	18	37491181	nonsense	probably null
IGL02721:Pcdhb18	APN	18	37490031	missense	probably benign	0.33
IGL02945:Pcdhb18	APN	18	37489995	missense	probably benign	0.34
IGL03030:Pcdhb18	APN	18	37490733	missense	probably damaging	1.00
R0206:Pcdhb18	UTSW	18	37490187	missense	possibly damaging	0.80
R0208:Pcdhb18	UTSW	18	37490187	missense	possibly damaging	0.80
R0680:Pcdhb18	UTSW	18	37490294	missense	probably damaging	0.98
R1517:Pcdhb18	UTSW	18	37489620	start codon destroyed	probably null	1.00
R1519:Pcdhb18	UTSW	18	37490892	missense	probably damaging	1.00
R1597:Pcdhb18	UTSW	18	37491767	missense	probably benign	0.19
R1735:Pcdhb18	UTSW	18	37490769	missense	probably benign	0.00
R2089:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2206:Pcdhb18	UTSW	18	37491289	missense	probably damaging	0.99
R2207:Pcdhb18	UTSW	18	37491289	missense	probably damaging	0.99
R4773:Pcdhb18	UTSW	18	37490454	missense	probably damaging	1.00
R4837:Pcdhb18	UTSW	18	37489814	missense	probably damaging	1.00
R5271:Pcdhb18	UTSW	18	37491596	missense	possibly damaging	0.94
R5568:Pcdhb18	UTSW	18	37491800	missense	probably benign	0.44
R5647:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5648:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5690:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5692:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5812:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5813:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5928:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5929:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5930:Pcdhb18	UTSW	18	37491935	missense	possibly damaging	0.63
R6209:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R6255:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R6602:Pcdhb18	UTSW	18	37490480	missense	probably damaging	0.99
R6699:Pcdhb18	UTSW	18	37491952	missense	probably benign	0.00
R7055:Pcdhb18	UTSW	18	37490811	missense	possibly damaging	0.64
R7197:Pcdhb18	UTSW	18	37490383	missense	probably benign	0.06
R7289:Pcdhb18	UTSW	18	37490647	missense	probably damaging	1.00
R7345:Pcdhb18	UTSW	18	37491923	missense	probably benign	0.19
R7403:Pcdhb18	UTSW	18	37491897	missense	probably benign	0.09
R7541:Pcdhb18	UTSW	18	37491609	missense	probably damaging	1.00
R7651:Pcdhb18	UTSW	18	37490993	missense	probably benign	0.00
R7670:Pcdhb18	UTSW	18	37491696	missense	probably damaging	1.00
R7673:Pcdhb18	UTSW	18	37491737	missense	probably benign	0.39
X0022:Pcdhb18	UTSW	18	37490273	missense	probably benign	0.06

Posted On

2016-08-02